Résumé :
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Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder due to lack of Dystrophin protein in muscle. Dystrophin is mainly concentrated in skeletal and cardiac muscle and less in smooth muscle, its deficiency causing severe progressive motor, respiratory and cardiac impairment. Dystrophin is also in the brain. Boys with Duchenne muscular dystrophy often have also central nervous system involvement such as mental retardation and learning disabilities. Autism is a brain development disorder impairing social interaction and communication and causing restricted and repetitive behavioural patterns, with all symptoms starting before three years of age.This set of signs distinguishes autism from milder autism spectrum disorders (ASDs), including Asperger syndrome. Genetic susceptibility to this condition has been documented. In the past only a single case report has been found about autism and DMD association In the last few years the hypothesis of a significative association between DMD and Autism has been proposed. Based on "ad hoc" chosen items of ADI-R and ADOS scales, both currently being considered the gold standard for autism diagnosis, we retrospectively evaluated the possible relational and communicational impairment and related risk factors in 43 DMD children very well known to our Centre . Only one child ( 2.3%) was found to be affected by autism , even though we have about 20% children with low IQ and some with depressive traits, speech and emotional problems
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